ClinVar Miner

Submissions for variant NM_001407.3(CELSR3):c.7890G>A (p.Met2630Ile)

gnomAD frequency: 0.00118  dbSNP: rs149614835
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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 RCV000970442 SCV001118019 benign not provided 2018-04-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000970442 SCV005305064 benign not provided criteria provided, single submitter not provided
OMIM RCV000033236 SCV000057092 uncertain significance Variant of unknown significance 2013-02-01 no assertion criteria provided literature only

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