ClinVar Miner

Submissions for variant NM_000488.3(SERPINC1):c.655A>G (p.Asn219Asp) (rs121909571)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000019658 SCV001423681 likely pathogenic Antithrombin III deficiency 2017-10-01 criteria provided, single submitter clinical testing [ACMG/AMP: PM2, PM5, PS4_Moderate, PP2, PP3] This alteration is absent from or rarely observed in large-scale population databases [PM2], is a novel missense change at an amino residue where a different missense change has been deemed to be pathogenic [PM5], has previously been observed in multiple unrelated patients with the same phenotype [PS4_Moderate], is a missense variant in a gene in which missense variants are a common mechanism of disease [PP2], is predicted to be damaging by multiple functional prediction tools [PP3].
OMIM RCV000019658 SCV000039956 pathogenic Antithrombin III deficiency 1994-12-01 no assertion criteria provided literature only

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