ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2556-130C>T

dbSNP: rs28385056
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001533492 SCV001750162 benign Bloom syndrome 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001619947 SCV001845395 benign not provided 2018-06-22 criteria provided, single submitter clinical testing

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