ClinVar Miner

Submissions for variant NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) (rs61736168)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036811 SCV000060466 likely benign not specified 2015-09-03 criteria provided, single submitter clinical testing p.Tyr469Tyr in Exon 5 of MARVELD2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 0.2% (107/66738) by the Exome Aggregation Consortium (http://exac.broadinstitute.org/; dbSNP rs61 736168).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725874 SCV000340150 uncertain significance not provided 2016-03-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292080 SCV000458137 uncertain significance Deafness, autosomal recessive 49 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000036811 SCV000718130 likely benign not specified 2018-02-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000725874 SCV001054270 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000036811 SCV001476674 benign not specified 2020-08-24 criteria provided, single submitter clinical testing

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