ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.2190T>C (p.Asp730=)

dbSNP: rs1754161817
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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 RCV001415106 SCV001617255 likely benign Netherton syndrome 2020-01-05 criteria provided, single submitter clinical testing

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