ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1991del (p.Pro664fs)

dbSNP: rs1553604677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665992 SCV000790220 uncertain significance GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-03-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000665992 SCV005658077 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2024-03-21 criteria provided, single submitter clinical testing

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