ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.1896C>T (p.Cys632=)

gnomAD frequency: 0.00009  dbSNP: rs764541508
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
Invitae RCV003596669 SCV001049223 likely benign Ichthyosis linearis circumflexa 2022-09-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424461 SCV004157291 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing SPINK5: BP4, BP7

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