ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2112T>C (p.Asn704=)

dbSNP: rs2080317012
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001278351 SCV003303581 likely benign Ataxia-telangiectasia syndrome 2022-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278351 SCV001465356 uncertain significance Ataxia-telangiectasia syndrome 2020-04-16 no assertion criteria provided clinical testing

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