ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3751+9A>C

gnomAD frequency: 0.00007  dbSNP: rs774368488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081399 SCV000283141 likely benign Bloom syndrome 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730297 SCV000858024 uncertain significance not provided 2017-11-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001081399 SCV001456903 likely benign Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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