ClinVar Miner

Submissions for variant NM_003097.6(SNRPN):c.-380C>T

dbSNP: rs886051016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000348503 SCV000390108 uncertain significance Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678677 SCV005170648 uncertain significance not specified 2024-03-25 criteria provided, single submitter clinical testing The c.25C>T (p.H9Y) alteration is located in exon 2 (coding exon 2) of the SNURF gene. This alteration results from a C to T substitution at nucleotide position 25, causing the histidine (H) at amino acid position 9 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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