ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3915_3916del (p.Asp1305fs)

dbSNP: rs2546887446
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004440266 SCV004932509 pathogenic Familial cancer of breast 2024-01-23 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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