ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.459C>T (p.Asp153=)

gnomAD frequency: 0.00001  dbSNP: rs1922153058
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001400869 SCV001602680 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 2 2022-08-15 criteria provided, single submitter clinical testing

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