ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2956C>T (p.Pro986Ser)

dbSNP: rs753873000
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000296080 SCV000436431 uncertain significance Knobloch syndrome 2016-06-14 criteria provided, single submitter clinical testing
New York Genome Center RCV001263255 SCV001441292 uncertain significance Seizure 2020-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002523187 SCV003581296 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.2947C>T (p.P983S) alteration is located in exon 35 (coding exon 35) of the COL18A1 gene. This alteration results from a C to T substitution at nucleotide position 2947, causing the proline (P) at amino acid position 983 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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