ClinVar Miner

Submissions for variant NM_033225.6(CSMD1):c.3534T>G (p.Leu1178=)

gnomAD frequency: 0.00496  dbSNP: rs147764737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892441 SCV001036313 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000892441 SCV004159458 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing CSMD1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000892441 SCV005271681 benign not provided criteria provided, single submitter not provided

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