ClinVar Miner

Submissions for variant NM_000140.5(FECH):c.181C>T (p.Gln61Ter)

dbSNP: rs2122357230
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542796 SCV001760432 likely pathogenic Protoporphyria, erythropoietic, 1 no assertion criteria provided clinical testing

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