ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.2166-186T>C

gnomAD frequency: 0.98887  dbSNP: rs6527027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001655609 SCV001862450 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655609 SCV005279193 benign not provided criteria provided, single submitter not provided
Leiden Open Variation Database RCV000851568 SCV000994644 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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