ClinVar Miner

Submissions for variant NM_006907.4(PYCR1):c.797+2_797+5del

dbSNP: rs1371235353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005025053 SCV005652834 likely pathogenic Autosomal recessive cutis laxa type 2B; PYCR1-related de Barsy syndrome 2024-04-09 criteria provided, single submitter clinical testing
OMIM RCV000014081 SCV000034329 pathogenic Autosomal recessive cutis laxa type 2B 2009-09-01 no assertion criteria provided literature only

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