Submissions for variant NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)

gnomAD frequency: 0.00359  dbSNP: rs137853909

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173033	SCV000203022	likely benign	not specified	2015-01-17	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000173033	SCV000297289	benign	not specified	2015-09-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000173033	SCV000313269	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000086969	SCV000520964	likely benign	not provided	2021-02-08	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22025579, 22090721, 29221435, 18094050, 20498079, 12107442, 15770229, 29127258, 29343940, 20177705)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083442	SCV000557436	benign	Bardet-Biedl syndrome; McKusick-Kaufman syndrome	2025-01-20	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000173033	SCV000595790	likely benign	not specified	2017-04-05	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000677321	SCV000803528	benign	Bardet-Biedl syndrome 6	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign, for Bardet-biedl syndrome 6, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Mendelics	RCV000585746	SCV001141213	benign	McKusick-Kaufman syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000585746	SCV001303009	uncertain significance	McKusick-Kaufman syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV000677321	SCV001303010	uncertain significance	Bardet-Biedl syndrome 6	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000086969	SCV004149869	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	MKKS: BP4, BS2
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	RCV000086969	SCV000119222	not provided	not provided		no assertion provided	not provided
Tolun Lab, Human Genetics Laboratory, Bogazici University	RCV000585746	SCV000583517	uncertain significance	McKusick-Kaufman syndrome		no assertion criteria provided	research
Clinical Genetics, Academic Medical Center	RCV000086969	SCV001920145	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000173033	SCV001928163	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000173033	SCV001954392	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000086969	SCV001973116	likely benign	not provided		no assertion criteria provided	clinical testing