ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.951+129A>C

gnomAD frequency: 0.63356  dbSNP: rs2375729
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001619841 SCV001846768 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000851557 SCV000994630 likely benign X-linked central congenital hypothyroidism with late-onset testicular enlargement 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Yu Sun.

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