ClinVar Miner

Submissions for variant NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu)

gnomAD frequency: 0.00002  dbSNP: rs759393722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000721916 SCV000996389 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; PP1; PS3-Moderate.
OMIM RCV000721916 SCV000853067 pathogenic Hyperparathyroidism, transient neonatal 2018-11-14 no assertion criteria provided literature only

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