ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.2620-17_2620-15dup

dbSNP: rs11437076
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001445284 SCV001648311 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2024-11-29 criteria provided, single submitter clinical testing

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