ClinVar Miner

Submissions for variant NM_001366521.1(ATP2B1):c.1376A>G (p.His459Arg)

dbSNP: rs1879993052
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262498 SCV001440400 likely pathogenic Neurodevelopmental disorder 2022-04-11 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2_MOD, PS3_SUP, PM1_MOD, PM2_SUP, PP2, PP3
Institute of Human Genetics, University of Leipzig Medical Center RCV004762034 SCV005368222 likely pathogenic Intellectual developmental disorder, autosomal dominant 66 2022-05-03 criteria provided, single submitter clinical testing Criteria applied: PS2_MOD, PM1, PS3_SUP, PM2_SUP, PP2, PP3

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