ClinVar Miner

Submissions for variant NM_000929.3(PLA2G5):c.312T>C (p.His104=)

gnomAD frequency: 0.00128  dbSNP: rs149833360
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625306 SCV000744810 likely benign Familial benign flecked retina 2017-06-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731909 SCV000859778 uncertain significance not provided 2018-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000731909 SCV001726852 benign not provided 2024-01-17 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701414 SCV001923011 benign not specified no assertion criteria provided clinical testing

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