ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.1220del (p.Pro407fs)

dbSNP: rs2106333049
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001580643 SCV001810299 uncertain significance Pili torti-deafness syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001580642 SCV001810300 uncertain significance GRACILE syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001580641 SCV001810301 uncertain significance Mitochondrial complex III deficiency nuclear type 1 2021-07-22 criteria provided, single submitter clinical testing

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