ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.1007+5G>A

gnomAD frequency: 0.00008  dbSNP: rs373812068
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001450196 SCV001653796 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540357 SCV004776116 likely benign BCS1L-related disorder 2023-04-28 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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