ClinVar Miner

Submissions for variant NM_006245.4(PPP2R5D):c.516C>T (p.Val172=)

gnomAD frequency: 0.00009  dbSNP: rs143756218
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001652729 SCV001865899 benign not provided 2019-05-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001652729 SCV002419673 likely benign not provided 2024-01-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001652729 SCV005223817 likely benign not provided criteria provided, single submitter not provided

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