ClinVar Miner

Submissions for variant NM_001256470.2(PLEKHA5):c.2052A>G (p.Glu684=)

gnomAD frequency: 0.00224  dbSNP: rs371284756
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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 RCV000893057 SCV001036970 benign not provided 2018-05-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000893057 SCV004134515 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing PLEKHA5: BP4
Breakthrough Genomics, Breakthrough Genomics RCV000893057 SCV005234232 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003930837 SCV004742054 benign PLEKHA5-related disorder 2019-05-14 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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