ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.180C>T (p.Ser60=)

dbSNP: rs2064909876
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001137802 SCV001297784 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.
Illumina Laboratory Services, Illumina RCV001140039 SCV001300251 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.
Invitae RCV003769654 SCV004585293 likely benign Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2023-07-29 criteria provided, single submitter clinical testing

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