ClinVar Miner

Submissions for variant NM_005857.5(ZMPSTE24):c.1338T>C (p.Pro446=)

gnomAD frequency: 0.00004  dbSNP: rs370202496
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000960818 SCV001107842 likely benign not provided 2023-12-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489354 SCV002802727 likely benign Lethal tight skin contracture syndrome; Mandibuloacral dysplasia with type B lipodystrophy 2021-09-03 criteria provided, single submitter clinical testing

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