ClinVar Miner

Submissions for variant NM_004319.3(ASTN1):c.3089C>T (p.Thr1030Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004331099 SCV004006651 uncertain significance not specified 2023-04-07 criteria provided, single submitter clinical testing The c.3089C>T (p.T1030M) alteration is located in exon 19 (coding exon 19) of the ASTN1 gene. This alteration results from a C to T substitution at nucleotide position 3089, causing the threonine (T) at amino acid position 1030 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003420654 SCV004123850 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ASTN1: BP4

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