ClinVar Miner

Submissions for variant NM_016139.4(CHCHD2):c.5C>T (p.Pro2Leu)

gnomAD frequency: 0.00762  dbSNP: rs142444896
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873019 SCV001014938 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000873019 SCV003917150 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing CHCHD2: BS2
PreventionGenetics, part of Exact Sciences RCV003955699 SCV004782678 likely benign CHCHD2-related disorder 2019-08-20 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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