ClinVar Miner

Submissions for variant NM_014264.5(PLK4):c.609A>G (p.Thr203=)

gnomAD frequency: 0.00001  dbSNP: rs564323488
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001500365 SCV001705151 likely benign not provided 2024-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495761 SCV002798124 likely benign Microcephaly and chorioretinopathy 2 2022-03-09 criteria provided, single submitter clinical testing

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