ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.1023+18A>G

gnomAD frequency: 0.31260  dbSNP: rs12608212
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518079 SCV001726715 benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001541332 SCV001759313 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001518079 SCV002029862 benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001541332 SCV005314764 benign not provided criteria provided, single submitter not provided

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