ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5354C>A (p.Pro1785His)

dbSNP: rs1555106368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628117 SCV000749009 likely benign Ataxia-telangiectasia syndrome 2019-11-13 criteria provided, single submitter clinical testing
Counsyl RCV000628117 SCV000791938 uncertain significance Ataxia-telangiectasia syndrome 2018-05-15 criteria provided, single submitter clinical testing

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