ClinVar Miner

Submissions for variant NM_033225.6(CSMD1):c.8935G>A (p.Gly2979Ser)

gnomAD frequency: 0.00586  dbSNP: rs117633452
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000894763 SCV001038769 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000894763 SCV004159431 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CSMD1: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000894763 SCV005220474 likely benign not provided criteria provided, single submitter not provided
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics RCV002051903 SCV002099778 pathogenic Cerebellar ataxia no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV003922837 SCV004740439 benign CSMD1-related disorder 2019-05-24 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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