ClinVar Miner

Submissions for variant NM_022835.3(PLEKHG2):c.2127G>A (p.Arg709=)

gnomAD frequency: 0.00001  dbSNP: rs767210419
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000917755 SCV001063045 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing

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