ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.1033+15G>C

gnomAD frequency: 0.00004  dbSNP: rs1183959983
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001404276 SCV001606174 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 3 2022-03-17 criteria provided, single submitter clinical testing

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