ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1675T>C (p.Phe559Leu)

gnomAD frequency: 0.00002  dbSNP: rs762828809
Minimum review status: Collection method:
Minimum conflict level:
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) RCV000340711 SCV000344986 uncertain significance not provided 2016-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000340711 SCV002971668 benign not provided 2022-09-12 criteria provided, single submitter clinical testing

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