ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1192del (p.Asp398fs) (rs1057519330)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Manipal Health Enterprises Pvt Ltd, Manipal Hospital RCV000416289 SCV000494065 likely pathogenic Ataxia-telangiectasia syndrome no assertion criteria provided clinical testing In this patient identified as homozygous variant. In another patient aged 6 years, identified as compound heterozygous variants NM_000051.3:c.[1192delG];[8068delT].

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