ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2709C>T (p.Phe903=)

dbSNP: rs2135524508
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001437489 SCV001640343 likely benign Ataxia-telangiectasia syndrome 2020-02-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004590448 SCV005084673 benign Familial cancer of breast 2024-05-10 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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