ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.821del (p.Pro274fs)

dbSNP: rs760559534
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671907 SCV000796940 likely pathogenic GRACILE syndrome 2018-01-05 criteria provided, single submitter clinical testing
Invitae RCV001383886 SCV001583206 pathogenic not provided 2021-08-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000671907 SCV002076354 pathogenic GRACILE syndrome 2020-05-01 no assertion criteria provided clinical testing

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