ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.24C>T (p.Phe8=)

gnomAD frequency: 0.31375  dbSNP: rs5771270
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Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001514159 SCV001721939 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001514159 SCV001759321 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614038 SCV000734135 benign Microcephaly and chorioretinopathy 1 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701076 SCV001924995 benign not specified no assertion criteria provided clinical testing

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