ClinVar Miner

Submissions for variant NM_003014.4(SFRP4):c.481_487del (p.Val161fs)

dbSNP: rs879253778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000234974 SCV002053860 pathogenic Pyle metaphyseal dysplasia criteria provided, single submitter clinical testing
OMIM RCV000234974 SCV000292328 pathogenic Pyle metaphyseal dysplasia 2017-10-03 no assertion criteria provided literature only

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