ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.-50+405A>G

gnomAD frequency: 0.00002  dbSNP: rs898301590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668517 SCV000793135 uncertain significance GRACILE syndrome 2017-07-28 criteria provided, single submitter clinical testing
Mendelics RCV000668517 SCV001136212 likely pathogenic GRACILE syndrome 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334241 SCV001527033 pathogenic Mitochondrial complex III deficiency nuclear type 1 2018-04-10 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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