ClinVar Miner

Submissions for variant NM_016816.4(OAS1):c.629G>A (p.Arg210His)

gnomAD frequency: 0.00002  dbSNP: rs768335993
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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 RCV001909087 SCV002173785 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004837822 SCV005462546 uncertain significance not specified 2024-09-10 criteria provided, single submitter clinical testing The c.629G>A (p.R210H) alteration is located in exon 3 (coding exon 3) of the OAS1 gene. This alteration results from a G to A substitution at nucleotide position 629, causing the arginine (R) at amino acid position 210 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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