ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.344-30T>A

gnomAD frequency: 0.52712  dbSNP: rs1021953
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001534240 SCV001751146 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788580 SCV002029865 benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001534240 SCV005315393 benign not provided criteria provided, single submitter not provided

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