ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1362G>A (p.Lys454=)

gnomAD frequency: 0.00009  dbSNP: rs147850435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180568 SCV000233035 uncertain significance not provided 2018-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314676 SCV000847480 likely benign Inborn genetic diseases 2016-08-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001080017 SCV001114012 likely benign Smith-Lemli-Opitz syndrome 2024-01-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080017 SCV002092991 likely benign Smith-Lemli-Opitz syndrome 2020-10-19 no assertion criteria provided clinical testing

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