ClinVar Miner

Submissions for variant NM_003014.4(SFRP4):c.373T>A (p.Cys125Ser)

dbSNP: rs1344808304
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MNM Diagnostics RCV001271113 SCV001451957 likely pathogenic Pyle metaphyseal dysplasia 2019-08-19 criteria provided, single submitter clinical testing According to ACMG Guidelines, the variant meets the following evidence of pathogenicity: PP3, PM1, PM2, PM3. Of note, the variant was identified in trans with NM_003014.3:c.161C>A variant in two patients (syblings) with Pyle's disease).

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