ClinVar Miner

Submissions for variant NM_198488.5(FAM83H):c.1493C>T (p.Pro498Leu)

gnomAD frequency: 0.11038  dbSNP: rs1137806
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246041 SCV000316957 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001651290 SCV001864393 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701982 SCV001934096 benign Amelogenesis imperfecta, hypocalcification type 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651290 SCV005267378 benign not provided criteria provided, single submitter not provided

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