ClinVar Miner

Submissions for variant NM_133497.4(KCNV2):c.1123G>A (p.Val375Met)

gnomAD frequency: 0.00002  dbSNP: rs568147806
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333495 SCV001526088 uncertain significance Cone dystrophy with supernormal rod response 2018-01-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001506669 SCV001711599 likely benign not provided 2024-12-26 criteria provided, single submitter clinical testing

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