ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.153del (p.Gln52fs)

dbSNP: rs1752706120
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092024 SCV001248361 pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
Payam Genetics Center, General Welfare Department of North Khorasan Province RCV003151831 SCV003840203 pathogenic Netherton syndrome 2023-01-01 no assertion criteria provided clinical testing

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