ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.1059T>C (p.His353=)

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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 RCV003741947 SCV004429846 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 3 2023-03-21 criteria provided, single submitter clinical testing

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