ClinVar Miner

Submissions for variant NM_005413.4(SIX3):c.105G>T (p.Gly35=)

gnomAD frequency: 0.00004  dbSNP: rs779034696
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728660 SCV000856262 uncertain significance not provided 2017-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003615857 SCV004396881 benign Holoprosencephaly 2 2023-08-02 criteria provided, single submitter clinical testing

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