ClinVar Miner

Submissions for variant NM_015425.6(POLR1A):c.978G>A (p.Val326=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003661303 SCV004373473 likely benign not provided 2022-10-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005030141 SCV005656881 uncertain significance Acrofacial dysostosis Cincinnati type; Leukodystrophy, hypomyelinating, 27 2024-01-04 criteria provided, single submitter clinical testing

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