ClinVar Miner

Submissions for variant NM_198173.3(GRHL3):c.1795C>G (p.Leu599Val)

dbSNP: rs797044857
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190659 SCV000244099 likely pathogenic Inborn genetic diseases 2014-07-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected

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