ClinVar Miner

Submissions for variant NM_000780.4(CYP7A1):c.1215+8C>T

gnomAD frequency: 0.00007  dbSNP: rs368417648
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732716 SCV000860697 uncertain significance not provided 2018-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000732716 SCV005749021 likely benign not provided 2024-11-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892647 SCV004716722 likely benign CYP7A1-related disorder 2021-04-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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