ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.709C>T (p.Leu237=)

gnomAD frequency: 0.00001  dbSNP: rs755941916
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179821 SCV000232135 uncertain significance not provided 2018-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083804 SCV001017221 likely benign Smith-Lemli-Opitz syndrome 2024-02-18 criteria provided, single submitter clinical testing

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