ClinVar Miner

Submissions for variant NM_018646.6(TRPV6):c.635G>A (p.Cys212Tyr)

dbSNP: rs1586190048
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000853473 SCV000996387 likely pathogenic Hyperparathyroidism, transient neonatal 2019-05-21 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Hyperparathyroidism, transient neonatal, autosomal recessive. The following ACMG Tag(s) were applied: PM2; PP3; PS3-Moderate; PM3-Supporting.

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