ClinVar Miner

Submissions for variant NM_005215.4(DCC):c.2000G>A (p.Arg667His)

gnomAD frequency: 0.00013  dbSNP: rs200099519
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000955540 SCV001102251 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000955540 SCV004143119 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing DCC: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000955540 SCV005250835 benign not provided criteria provided, single submitter not provided
GeneReviews RCV000192074 SCV000218406 not provided Mirror movements 1 no assertion provided literature only May be associated with a higher risk of CMM.

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