ClinVar Miner

Submissions for variant NM_004252.5(NHERF1):c.252C>T (p.Asn84=)

gnomAD frequency: 0.00004  dbSNP: rs781350887
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002145705 SCV002454916 likely benign not provided 2021-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494449 SCV002799358 likely benign Hypophosphatemic nephrolithiasis/osteoporosis 2 2022-04-21 criteria provided, single submitter clinical testing

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