ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.14C>T (p.Pro5Leu)

dbSNP: rs1567034056
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709353 SCV000838939 uncertain significance Bloom syndrome 2018-07-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000709353 SCV002816781 uncertain significance Bloom syndrome 2021-09-08 criteria provided, single submitter clinical testing

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