ClinVar Miner

Submissions for variant NM_015425.6(POLR1A):c.1187G>A (p.Ser396Asn)

gnomAD frequency: 0.00763  dbSNP: rs35443467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514146 SCV000610872 likely benign not provided 2017-06-06 criteria provided, single submitter clinical testing
Invitae RCV000514146 SCV001024335 benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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