ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.2632C>T (p.His878Tyr)

dbSNP: rs748500823
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000696699 SCV000825273 uncertain significance Netherton syndrome 2021-08-31 criteria provided, single submitter clinical testing

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