ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.4590del (p.Phe1530fs)

dbSNP: rs1773793203
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
CeGaT Center for Human Genetics Tuebingen RCV001093183 SCV001250039 likely pathogenic not provided 2019-10-01 criteria provided, single submitter clinical testing

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