ClinVar Miner

Submissions for variant NM_004426.3(PHC1):c.2077A>G (p.Thr693Ala)

gnomAD frequency: 0.36410  dbSNP: rs1049925
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001714918 SCV001938870 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788822 SCV002029616 benign Microcephaly 11, primary, autosomal recessive 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001714918 SCV005233526 benign not provided criteria provided, single submitter not provided

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