ClinVar Miner

Submissions for variant NM_015065.3(EXPH5):c.1568A>G (p.His523Arg)

gnomAD frequency: 0.00553  dbSNP: rs12146512
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002156955 SCV002332856 benign not provided 2024-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002156955 SCV004133286 benign not provided 2022-10-01 criteria provided, single submitter clinical testing EXPH5: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002156955 SCV005229347 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003978503 SCV004791835 likely benign EXPH5-related disorder 2024-01-19 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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