ClinVar Miner

Submissions for variant NM_005413.4(SIX3):c.187GGC[8] (p.Gly69dup)

dbSNP: rs555285206
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173374 SCV000224478 uncertain significance not provided 2014-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054049 SCV002404845 benign Holoprosencephaly 2 2025-01-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004998367 SCV005621600 benign not specified 2024-06-06 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005396520 SCV006057385 likely benign Holoprosencephaly 2; Schizencephaly 2023-10-02 criteria provided, single submitter research

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